AutismKB 2.0

Annotation Detail for SLC45A2


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Basic Information Top
Gene Symbol:SLC45A2 ( 1A1,AIM1,MATP,SHEP5 )
Gene Full Name: solute carrier family 45, member 2
Band: 5p13.2
Quick LinksEntrez ID:51151; OMIM: 606202; Uniprot ID:S45A2_HUMAN; ENSEMBL ID: ENSG00000164175; HGNC ID: 16472
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
356N-linked (GlcNAc...) (Potential).
Location(AA) Modifications Resource
356N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
Location(AA) Modification Resource
13Phosphotyrosine(INSR)HMM predict
32Phosphothreonine(PKA)HMM predict
55Phosphotyrosine(Abl)HMM predict
55Phosphotyrosine(EGFR)HMM predict
57Phosphothreonine(CDK)HMM predict
278Phosphotyrosine(INSR)HMM predict
297Phosphothreonine(PKC)HMM predict
302Phosphothreonine(PKC)HMM predict
302Phosphothreonine(PKA)HMM predict
356N-linkedHMM predict
357PhosphoserineHMM predict
519S-palmitoylHMM predict
520S-palmitoylHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_001012509
  • Location:chr5 33981730-34020536
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
NRSF pAbJurkat 34020843 34021735 892 753
TAF HelaGSE8489 34020480 34021909 1429 658
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 34005830 34005994 164 0
CTCF CD4SISSRdata 34005830 34005994 164 0
CTCF G2GSE9613 34005496 34006241 745 0
CTCF G2GSE9613 34016706 34017025 319 0
CTCF G2GSE9613 34020223 34020511 288 0
NRSF mAbJurkat 33983621 33983835 214 0
Oct1 HelaGSE14283 34002162 34002202 40 0
TFAP2C MCF7GSE21234 34004495 34004769 274 0
hScc1 BcellGSE12603 34005569 34006093 524 0
hScc1 CdLSGSE12603 34005422 34006131 709 0
hScc1 G2GSE9613 34005496 34006166 670 0
Validated miRNA targets Top
Micro RNA Name Stem Loop Name The chromosome that miRNA located Publication
hsa-miR-631 hsa-mir-631 15 20881232
hsa-miR-631 hsa-mir-631 15 20881232
No data
Cis-Nats regulation Top

Simple Query:


  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018


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